Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it into the simple sugar glucose.

NTIS refers to a syndrome found in seriously ill or starving patients with low fT3, usually elevated RT3, normal or low TSH, and if prolonged, low fT4. It is found in a high proportion of patients in the ICU setting, and correlates with a poor prognosis if TT4 is <4ug/dl. The patho-physiology includes suppression of TRH release, reducedT3 and T4 turnover, reduction in liver generation of T3, increased formation of RT3, and tissue specific down-regulation of deiodinases, transporters, and TH receptors. Although long debated, tissue TH levels are definitely reduced, and tissue hypothyroidism is presumably present. This is often not clinically evident because of the brief duration, and reduced but not absent tissue levels of TH. Although recognized for nearly 4 decades, interpretation of the syndrome is contested, because of lack of data. Some observes, totally without data, argue that it is a protective response and should not be treated. Other observers (as in this review) present available data suggesting, but not proving, that thyroid hormone replacement is appropriate, not harmful, and may be beneficial. The best form of treatment (TRH,TSH,or T3+T4) and possible accompanying treatments (GHRH, Cortisol, nutrition, insulin) lack consensus. In this review current data are laid out for reader’s review and judgment.

There are 3 genetic types of FHH based on chromosome location. FHH type 1 accounts for 65% of cases and is due to inactivating mutations in the CASR gene, localized to 3q21.1. This gene encodes the calcium-sensing receptor (CaSR). Loss of CaSR function results in a reduction in the sensitivity of parathyroid and renal cells to calcium levels so hypercalcemia is perceived as normal. The other 35% have either a mutation GNA11 (19p13.3) seen in FHH type 2 or AP2S1 (19q13.2-q13.3) seen in FHH type 3 (see these terms) or in genes not yet discovered. FHH is rarely caused by auto-antibodies against CaSR in those without a mutation.

Cervical Mucus

How to Check Cervical Mucus

An epidural abscess is a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine. The abscess causes swelling in the area. Spinal cord abscess (SCA) is a rare condition capable of causing permanent damage to the spinal cord. Abscesses are caused when injured tissue becomes infected. The body's immune system sends white blood cells to help fight off the infection. They begin to fill the damaged tissue, causing pus to build up.

Device that keeps a donor heart beating

Bioprosthetic valves used in heart valve replacement generally offer functional properties that are more similar to those of native valves.

A retroverted uterus (tilted uterus, tipped uterus) is a uterus that is tilted posteriorly. This is in contrast to the slightly "anteverted" uterus that most women have, which is tipped forward toward the bladder, with the anterior end slightly concave.

The differential diagnosis for this child's painless hematochezia includes Meckel's diverticulum as well as vascular malformations. Meckel's diverticulum results from a failure of the vitelline duct to obliterate during the first 8 weeks of gestation, leaving behind a blind pouch often containing ectopic gastric tissue. Meckel's diverticulum classically affects children age ~:2 but can also occur in older children or even adults. Young children are more likely to experience painless bleeding due to mucosal irritation from gastric acid; adolescents and adults are more likely to have signs of obstruction. A technetium-99 nuclear scan will identify the diverticulum, which is usually located in the right lower quadrant of the abdomen within 2 feet of the ileocecal valve. Technetium-99 concentrates in the parietal cells of the diverticulum and stomach. The scan is also known as "Meckel's scan" due to its high specificity. A symptomatic Meckel's diverticulum is generally treated with surgical resection.

A nephron (from Greek νεφρός (nephros) meaning "kidney") is the basic structural and functional unit of the kidney. Its chief function is to regulate the concentration of water and soluble substances like sodium salts by filtering the blood, reabsorbing what is needed and excreting the rest as urine.

Simple technique to harvest Connective tissue graft from the Palate.

An animated description of the use of a cannulated Herbert screw for surgical treatment of scaphoid fractures.

The cause of pectus excavatum is not known however it can run in families, with up to 25 percent of affected patients reporting chest wall abnormalities in other family members. Pectus excavatum occurs in approximately 1 out of 400–1000 children and is three to five times more common in males than females.

Womb Fight amazing

knife spoon and toothbrush removed from stomach

This video shows the technique of suprapatellar tibial nailing as used for a segmental tibia fracture. The broken leg was treated with the nail to allow immediate mobility and range of motion; no cast was needed for this injury.

Frontotemporal dementia (frontotemporal lobar degeneration) is an umbrella term for a diverse group of uncommon disorders that primarily affect the frontal and temporal lobes of the brain — the areas generally associated with personality, behavior and language. In frontotemporal dementia, portions of these lobes shrink (atrophy). Signs and symptoms vary, depending upon the portion of the brain affected. Some people with frontotemporal dementia undergo dramatic changes in their personality and become socially inappropriate, impulsive or emotionally indifferent, while others lose the ability to use language.

The brain is the most complex organ in our body. It controls everything we do, from simple things such as breathing, to complex things such as co-ordinating our movements. The brain stores our memories, allows us to think and speak, and controls how we behave

Alzheimer’s disease is the most common cause of dementia and also the best understood. It is thought to be caused by the formation of abnormal deposits of protein in the brain.